Varaico: Literature-Extracted Genetic Variants

ADAMTS15

94 papers

RefSeq Summary

This gene encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) protein family. ADAMTS family members share several distinct protein modules, including a prop...

Pfam Domains

Pep_M12B_propepaa 24–108UCSCReprolysin family propeptide

Reprolysinaa 218–427UCSCReprolysin (M12B) family zinc metalloprotease

ADAMTS_CR_2aa 438–505UCSCADAMTS cysteine-rich domain 2

TSP_1aa 520–570UCSCThrombospondin type 1 domain

ADAMTS_CR_3aa 579–682UCSCADAMTS cysteine-rich domain

ADAMTS_spacer1aa 684–801UCSCADAM-TS Spacer 1

Gene Aliases

HGNC Name

ADAM metallopeptidase with thrombospondin type 1 motif 15

HGNC Previous Name

a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 15

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_139055.4

p.G761S

c.2281G>A

Surrounding Variants

1 paper

NM_139055.4

p.G763S

c.2287G>A

1 paper

NM_139055.4

p.A765V

c.2294C>T

2 papers

NM_139055.4

p.Q770R

c.2309A>G

1 paper

NM_139055.4

p.Q770L

c.2309A>T

1 paper

NM_139055.4

p.L750V

c.2248C>G

3 papers

NM_139055.4

p.A745V

c.2234C>T

1 paper

NM_139055.4

p.N738N

c.2214C>T

1 paper

NM_139055.4

p.V786M

c.2356G>A

1 paper

NM_139055.4

p.G787delFs

c.2361delG

1 paper

NM_139055.4

p.K788fs

c.2362_2363fs

1 paper

NM_139055.4

p.A727P

c.2179G>C

1 paper

NM_139055.4

p.F798L

c.2392T>C